From gene to treatment: supporting rare disease translational research through model systems

Disease Models & Mechanisms
Julija Hmeljak, Monica J Justice

Abstract

Individual rare diseases may affect only a few people, making them difficult to recognize, diagnose or treat by studying humans alone. Instead, model organisms help to validate genetic associations, understand functional pathways and develop therapeutic interventions for rare diseases. In this Editorial, we point to the key parameters in face, construct, predictive and target validity for accurate disease modelling, with special emphasis on rare disease models. Raising the experimental standards for disease models will enhance successful clinical translation and benefit rare disease research.

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Feb 29, 2020·Genes·K M Tahsin Hassan Rahit, Maja Tarailo-Graovac
Aug 28, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Kevin H YoonAndrew J Waskiewicz
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Feb 11, 2021·Trends in Pharmacological Sciences·Helen I RoesslerGijs van Haaften
Mar 6, 2021·Frontiers in Cell and Developmental Biology·Emma LinnMatteo Avella
Mar 19, 2021·Disease Models & Mechanisms·Monica J Justice
Jul 13, 2021·Frontiers in Pediatrics·Venkatesh Sampath, Ramani Ramchandran

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Methods Mentioned

BETA
gene knockout

Software Mentioned

DMM
NemaFlex

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